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Health and Genetic Ancestry Testing: Time to Bridge the Gap Andrew Smart1* , Deborah A

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Smart et al. BMC Medical Genomics (2017) 10:3 DOI 10.1186/s12920-016-0240-3 DEBATE Open Access Health and genetic ancestry testing: time to bridge the gap Andrew Smart1* , Deborah A. Bolnick2 and Richard Tutton3 Abstract Background: It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing. Main text: We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding. Conclusion: We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information. Keywords: Direct-to-consumer genetic tests, Genetic ancestry, Disease/Health risk, Regulation, Social implications, Public understanding Background independent and distinct, little guidance is available to While genetic ancestry tests marketed to consumers do help consumers understand and interpret the reported not currently claim to provide information about disease connections between genetic ancestry and disease risk. risk, it is becoming increasingly difficult to keep infor- Consequently, when such findings circulate in the pub- mation about ancestry separate from information about lic realm, consumers learn that there may be health health. In this article, we consider the recent and unre- risks tied to their genetic ancestry even though com- marked upon growth in genetic tests and biomedical panies do not report those associations. There is there- studies linking markers of genetic ancestry to various fore potential for confusion or misunderstanding that is diseases and medical conditions. These developments problematic for both consumers and the scientific com- are becoming part of public discourse connecting ancestry munity. We argue that the various stakeholders in genetic and health, but because genetic testing companies, over- ancestry testing need to reconsider what they communi- sight agencies, and professional genetic associations cate about the health implications of ancestry information, have largely treated health and ancestry genetic tests as both to the public and to each other, in order to effectively bridge the gap that currently exists in policies and * Correspondence: [email protected] consumer guidance regarding genetic tests for ancestry 1 Department of Sociology, Bath Spa University, Newton Park, Bath BA2 9BN, and health. UK Full list of author information is available at the end of the article © The Author(s). 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Smart et al. BMC Medical Genomics (2017) 10:3 Page 2 of 9 The gap between genetic tests for health and ancestry via media coverage of scientific studies and ancestry online discussion groups. Genetic ancestry tests were first marketed directly to This blurring of the line between genetic ancestry and consumers in 2000, for the purpose of reconstructing health accentuates the gaps that currently exist in policy genealogies and investigating personal genetic heritage. and in the available guidance for consumers because little They quickly became the most popular of all consumer attention has been given to the health implications of genetic testing services, and more than three million in- genetic ancestry testing. However, as others have noted, it dividuals have reportedly purchased these tests to date may become common for consumers to share their ances- [1, 2]. Over the last 15 years, companies [3], regulators try test results or ancestry-related estimates of disease risk [4] and professional scientific associations [5, 6] have with their physicians, expecting such information to in- treated ancestry genetic tests differently than medical or form their healthcare decisions and improve their quality health-oriented genetic tests. Tests that make health- of care [13, 14]. It is therefore crucial that we bridge these related claims or have implications for the prevention, gaps to ensure that genetic testing information is used ap- diagnosis, or treatment of disease have been subject to propriately in health-related decisions and clinical care. greater scrutiny and oversight, as regulators have sought This is especially important because most physicians lack to ensure that potentially life-changing healthcare deci- the expertise needed to interpret and contextualize the re- sions are not made on the basis of poor quality informa- sults of genetic tests: only 29% of US clinicians surveyed tion or with a lack of appropriate medical knowledge, rate their knowledge of genetics as excellent, very good, or advice, and support [7]. Genetic ancestry tests have re- good [15], and less than a third of the physicians surveyed ceived less attention from legislators, policy makers and in five European countries were confident or very regulatory agencies because they are not marketed expli- confident in their ability to carry out basic medical genetic citly for disease diagnosis, treatment, or prevention, and tasks [16]. Given these findings, there is a real risk that have thus been seen as more “recreational”, less conse- consumers or their physicians could make problematic quential, and less ethically problematic. This differenti- and potentially irreversible healthcare decisions based on ation between ancestry and health genetic testing has inaccurate, misleading, or misinterpreted genetic testing seemed appropriate because the two types of tests have results. Genetic ancestry information has been misinter- had such different applications. preted or over-interpreted in the past [17–19], and it has However, recent developments demonstrate that the been used in ways that reach far beyond the intended or boundary between ancestry-related and health-related anticipated scientific applications — for example, in con- genetic testing is more porous than previously suggested troversial attempts to use genetic ancestry tests to support [8], and it is being transgressed in a variety of ways. Native American tribal membership claims [20] and to When genetic testing company 23andMe suspended its infer nationality in asylum cases [21]. ‘health reports’ in 2013, following a warning from the Thus, it is critical that we recognize and address the US Food and Drug Administration (FDA), it continued increasingly porous boundary between genetic tests for to provide customers with ancestry information and ancestry and health because (1) genetic ancestry tests can their raw genetic data [9, 10]. With these ancestry testing provide information that has consequences for health data, consumers could still obtain an assessment of their decision-making, (2) test-takers may have unrealistic health risks using independent online ‘interpretation-only’ expectations about the scientific and medical certainties services for as little as $5 [11]. More explicit links between offered by the tests they have purchased, (3) many physi- genetic ancestry and health are evident in 23andMe’sre- cians are not prepared to interpret and apply the genetic launched Health + Ancestry Service, which was approved test results that their patients may bring into the clinic, by the FDA as a ‘medical device’ and provides both ances- and (4) better guidance for consumers is needed to ensure try and health information. This service directly connects that health-related information from genetic ancestry tests ancestry to health in its ‘wellness’ reports for traits like lac- is interpreted and applied in valid ways. This is especially tose intolerance and in its ‘carrier status’ reports for med- important because, as we show in the next section, scien- ical conditions like cystic fibrosis and sickle cell tific and biomedical studies have been drawing ever more anemia, as both link risk estimates to named racial/
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